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Gene | CBL |
Variant | del exon8 |
Impact List | deletion |
Protein Effect | gain of function |
Gene Variant Descriptions | CBL del exon8 is a CBL splice variant caused by a mutation resulting in the deletion of exon 8 (PMID: 18698078). Del exon8 results in ligand-independent Flt3 autophosphorylation, and activation of Stat5 and Akt, and leads to increased ligand-dependent proliferation, and IL-3 independent proliferation of cells in culture (PMID: 19276253). |
Associated Drug Resistance | |
Category Variants Paths |
CBL mutant CBL act mut CBL del exon8 CBL mutant CBL exon8 CBL del exon8 |
Molecular Profile | Protein Effect | Treatment Approaches |
---|---|---|
CBL del exon8 | gain of function |